Project Summary- Genomics Core Genomic technologies have broadly impacted vision science and have a crifical role in most ofthe research programs carried out at Mass Eye and Ear. The Genomics core provides access to state-of- the-art genomic resources at low cost. Direct access to the Genomics core resources and expertise makes it possible for investigators to efficiently obtain high-quality data and eliminates the long queues for services such as next-generation sequencing frequently experienced at off-site centers. Importantly, the expert Genomics core personnel can help investigators plan appropriate experiments and assist with analyses (including troubleshooting)-services that would not be readily available elsewhere. The efficient timeline for data acquisition increases the overall productivity of the core investigators as well as improves the quality of the research. Genomic data is an important feature of many of the MEEI research programs and is especially important for the translational studies. The Genomics core personnel are experts in the genetics and genomics of eye disease, creating opportunities for collaboration among investigators using this resource. Overall direct access to Genomics core personnel and resources greatly enhances the quality of the research and ultimate accomplishments of the core investigators. The Genomics core is directed by Dr. Eric Pierce, an expert in the genetics and genomics of inherited ocular disease. Services provided by the Genomics core includes: Sanger sequencing, whole exome sequencing, selective exon capture and next generation sequencing (NGS) for ocular disease genes (RetNeT, glaucoma, optic neuropathy, mitochondrial DNA), genome-wide genotyping (both common and rare variation), copy number variation (CNV) using array CGH (comparative genomic hybridization), high-density genotypes and MLPA (multiplex ligation-dependent probe amplification), and RNA sequencing (RNA-seq) for transcriptome analyses.